Canonical Allele Identifier: PA2573066855
Gene: GBA1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165282.1:p.Ser77Arg
CA1141731
NM_001171811.2:c.231C>G
CA342724565
NM_001171811.2:c.231C>A
CA342724583
NM_001171811.2:c.229A>C